HGVS | Genome Assembly |
---|---|
NC_000017.11:g.6780790_6780791insGTTGAGGT , CM000679.2:g.6780790_6780791insGTTGAGGT | GRCh38 |
NC_000017.10:g.6684109_6684110insGTTGAGGT , CM000679.1:g.6684109_6684110insGTTGAGGT | GRCh37 |
NC_000017.9:g.6624833_6624834insGTTGAGGT | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000321535.5:c.922_923insGTTGAGGT MANE Select | ENSP00000321386.4:p.Ile308SerfsTer2 | |
ENST00000321535.4:c.922_923insGTTGAGGT | ENSP00000321386.4:p.Ile308SerfsTer2 | |
NM_153230.2:c.922_923insGTTGAGGT | NP_694962.1:p.Ile308SerfsTer2 | |
XM_011523697.1:c.922_923insGTTGAGGT | XP_011521999.1:p.Ile308SerfsTer2 | |
XR_243544.3:n.1100_1101insGTTGAGGT | ||
NM_153230.3:c.922_923insGTTGAGGT MANE Select | NP_694962.1:p.Ile308SerfsTer2 |